免疫原
Synthesized peptide derived from human Ataxin-3 (Phospho-Ser256)
特异性
This antibody detects endogenous levels of Ataxin-3 (Phospho-Ser256) at Human, Mouse,Rat
来源
Polyclonal, Rabbit,IgG
组成（Formulation）
Liquid in PBS containing 50% glycerol, and 0.193% sodium azide.
纯化工艺（Immunogen）
The antibody was affinity-purified from rabbit serum by affinity-chromatography using specific immunogen.
背景（Background）
ataxin 3(ATXN3) Homo sapiens Machado-Joseph disease, also known as spinocerebellar ataxia-3, is an autosomal dominant neurologic disorder. The protein encoded by this gene contains (CAG)n repeats in the coding region, and the expansion of these repeats from the normal 12-44 to 52-86 is one cause of Machado-Joseph disease. There is a negative correlation between the age of onset and CAG repeat numbers. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2016],
功能
disease:Defects in ATXN3 are the cause of spinocerebellar ataxia type 3 (SCA3) [MIM:109150]; also known as Machado-Joseph disease (MJD). Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA3 belongs to the autosomal dominant cerebellar ataxias type I (ADCA I) which are characterized by cerebellar ataxia in combination with additional clinical features like optic atrophy, ophthalmoplegia, bulbar and extrapyramidal signs, peripheral neuropathy and dementia. The molecular defect in SCA3 is the a CAG repeat expansion in ATX3 coding region. Longer expansions result in earlier onset and more severe clinical manifestations of the disease
基因名称（Gene Name）
ATXN3 ATX3 MJD MJD1 SCA3
蛋白名称
Ataxin-3 (Phospho-Ser256)
其他名称
Ataxin-3 (EC 3.4.19.12) (Machado-Joseph disease protein 1) (Spinocerebellar ataxia type 3 protein)
Fields
>>Protein processing in endoplasmic reticulum;>>Spinocerebellar ataxia;>>Pathways of neurodegeneration - multiple diseases
细胞定位
Nucleus matrix . Nucleus . Predominantly nuclear, but not exclusively, inner nuclear matrix.
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